Prenatal Diagnosis - Rare and Undiagnosed Disease - Telegenetics
Prenatal Diagnosis Program
- Within the interdisciplinary CHLA-USC Institute of Maternal and Fetal Health, a team of geneticists, perinatologists (maternal-fetal specialists), and other subspecialists from Children's Hospital Los Angeles provides complete prenatal diagnostic evaluations and counseling for families at risk for genetic disorders and birth defects. This program offers some of the most sophisticated diagnostic studies available, including high-resolution fetal ultrasound, fetal echocardiography, fetal MRI, fetal surgery, chorionic villus sampling and amniocentesis. The Medical Genetics team is led by Linda Marie Randolph, MD, FAAP, FACMG.
- The goal for our Institute for Maternal - Fetal Health to provide coordinated, comprehensive, best-quality care to parents-to-be and their unborn babies in a supportive environment.
- Puerto Rican children who are insured through Reforma (equivalent to Medicaid), have only a single pediatric geneticist on the island to whom they may be referred. Wait times for new appointments with the geneticist can be up to 1.5 years. In some cases, children who live in remote parts of the island simply go without specialist consultation.
- Linda Randolph, MD, Division Head of Medical Genetics, conducts detailed history taking and uses digital stethoscopes connected to state-of-the-art telemedicine stations to evaluate patients. This technology allows her to provide accurate diagnosis and treatment plans for patients thousands of miles away. To date we have evaluated well over 100 patients through this program.
- In addition, we have partnered with a local laboratory to perform genetic testing. This allows patients in Puerto Rico the opportunity to benefit from our expertise in new medical developments and discoveries, including, for example, chromosome microarray testing.
- Currently, Dr. Randolph provides a bi-weekly tele-genetics consultation to children in Puerto Rico.
Rare and Undiagnosed Disease Program
Does your child suffer from a condition that baffles physicians? We may be able to offer a solution and provide your family the answers you seek through genetic testing known as “Whole Exome Sequencing”.
- Our team uses the latest in cutting edge science to help you and your family find the answers that have thus far eluded your child’s medical treatment team.
- A simple blood test may provide our clinical geneticists with the key to unlock the door to discover the specific condition affecting your child and even more important, provide a roadmap to treating the condition in consultation with our team of multidisciplinary pediatric specialists.